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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 3-50077082-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=50077082&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PVS1_Moderate",
"PM2"
],
"effects": [
"stop_gained"
],
"gene_symbol": "RBM6",
"hgnc_id": 9903,
"hgvs_c": "c.3321C>G",
"hgvs_p": "p.Tyr1107*",
"inheritance_mode": "AD",
"pathogenic_score": 4,
"score": 4,
"transcript": "NM_005777.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PVS1_Moderate,PM2",
"acmg_score": 4,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.58,
"chr": "3",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.5799999833106995,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1123,
"aa_ref": "Y",
"aa_start": 1107,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3630,
"cdna_start": 3463,
"cds_end": null,
"cds_length": 3372,
"cds_start": 3321,
"consequences": [
"stop_gained"
],
"exon_count": 21,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "NM_005777.3",
"gene_hgnc_id": 9903,
"gene_symbol": "RBM6",
"hgvs_c": "c.3321C>G",
"hgvs_p": "p.Tyr1107*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000266022.9",
"protein_coding": true,
"protein_id": "NP_005768.1",
"strand": true,
"transcript": "NM_005777.3",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1123,
"aa_ref": "Y",
"aa_start": 1107,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3630,
"cdna_start": 3463,
"cds_end": null,
"cds_length": 3372,
"cds_start": 3321,
"consequences": [
"stop_gained"
],
"exon_count": 21,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000266022.9",
"gene_hgnc_id": 9903,
"gene_symbol": "RBM6",
"hgvs_c": "c.3321C>G",
"hgvs_p": "p.Tyr1107*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_005777.3",
"protein_coding": true,
"protein_id": "ENSP00000266022.4",
"strand": true,
"transcript": "ENST00000266022.9",
"transcript_support_level": 1
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 601,
"aa_ref": "Y",
"aa_start": 585,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2260,
"cdna_start": 2093,
"cds_end": null,
"cds_length": 1806,
"cds_start": 1755,
"consequences": [
"stop_gained"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000442092.5",
"gene_hgnc_id": 9903,
"gene_symbol": "RBM6",
"hgvs_c": "c.1755C>G",
"hgvs_p": "p.Tyr585*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000393530.1",
"strand": true,
"transcript": "ENST00000442092.5",
"transcript_support_level": 1
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1131,
"aa_ref": "Y",
"aa_start": 1115,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3654,
"cdna_start": 3487,
"cds_end": null,
"cds_length": 3396,
"cds_start": 3345,
"consequences": [
"stop_gained"
],
"exon_count": 21,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000858028.1",
"gene_hgnc_id": 9903,
"gene_symbol": "RBM6",
"hgvs_c": "c.3345C>G",
"hgvs_p": "p.Tyr1115*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528087.1",
"strand": true,
"transcript": "ENST00000858028.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1123,
"aa_ref": "Y",
"aa_start": 1107,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3638,
"cdna_start": 3473,
"cds_end": null,
"cds_length": 3372,
"cds_start": 3321,
"consequences": [
"stop_gained"
],
"exon_count": 21,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000858030.1",
"gene_hgnc_id": 9903,
"gene_symbol": "RBM6",
"hgvs_c": "c.3321C>G",
"hgvs_p": "p.Tyr1107*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528089.1",
"strand": true,
"transcript": "ENST00000858030.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1123,
"aa_ref": "Y",
"aa_start": 1107,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3784,
"cdna_start": 3617,
"cds_end": null,
"cds_length": 3372,
"cds_start": 3321,
"consequences": [
"stop_gained"
],
"exon_count": 21,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000931422.1",
"gene_hgnc_id": 9903,
"gene_symbol": "RBM6",
"hgvs_c": "c.3321C>G",
"hgvs_p": "p.Tyr1107*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000601481.1",
"strand": true,
"transcript": "ENST00000931422.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1123,
"aa_ref": "Y",
"aa_start": 1107,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3704,
"cdna_start": 3540,
"cds_end": null,
"cds_length": 3372,
"cds_start": 3321,
"consequences": [
"stop_gained"
],
"exon_count": 22,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000931423.1",
"gene_hgnc_id": 9903,
"gene_symbol": "RBM6",
"hgvs_c": "c.3321C>G",
"hgvs_p": "p.Tyr1107*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000601482.1",
"strand": true,
"transcript": "ENST00000931423.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1078,
"aa_ref": "Y",
"aa_start": 1062,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3491,
"cdna_start": 3326,
"cds_end": null,
"cds_length": 3237,
"cds_start": 3186,
"consequences": [
"stop_gained"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000858029.1",
"gene_hgnc_id": 9903,
"gene_symbol": "RBM6",
"hgvs_c": "c.3186C>G",
"hgvs_p": "p.Tyr1062*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528088.1",
"strand": true,
"transcript": "ENST00000858029.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 991,
"aa_ref": "Y",
"aa_start": 975,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4010,
"cdna_start": 3844,
"cds_end": null,
"cds_length": 2976,
"cds_start": 2925,
"consequences": [
"stop_gained"
],
"exon_count": 21,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000443081.5",
"gene_hgnc_id": 9903,
"gene_symbol": "RBM6",
"hgvs_c": "c.2925C>G",
"hgvs_p": "p.Tyr975*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000396466.1",
"strand": true,
"transcript": "ENST00000443081.5",
"transcript_support_level": 5
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 751,
"aa_ref": "Y",
"aa_start": 735,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2496,
"cdna_start": 2330,
"cds_end": null,
"cds_length": 2256,
"cds_start": 2205,
"consequences": [
"stop_gained"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000947579.1",
"gene_hgnc_id": 9903,
"gene_symbol": "RBM6",
"hgvs_c": "c.2205C>G",
"hgvs_p": "p.Tyr735*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000617638.1",
"strand": true,
"transcript": "ENST00000947579.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 609,
"aa_ref": "Y",
"aa_start": 593,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2191,
"cdna_start": 2024,
"cds_end": null,
"cds_length": 1830,
"cds_start": 1779,
"consequences": [
"stop_gained"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_001349194.2",
"gene_hgnc_id": 9903,
"gene_symbol": "RBM6",
"hgvs_c": "c.1779C>G",
"hgvs_p": "p.Tyr593*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001336123.1",
"strand": true,
"transcript": "NM_001349194.2",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 601,
"aa_ref": "Y",
"aa_start": 585,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2117,
"cdna_start": 1950,
"cds_end": null,
"cds_length": 1806,
"cds_start": 1755,
"consequences": [
"stop_gained"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_001167582.2",
"gene_hgnc_id": 9903,
"gene_symbol": "RBM6",
"hgvs_c": "c.1755C>G",
"hgvs_p": "p.Tyr585*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001161054.1",
"strand": true,
"transcript": "NM_001167582.2",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 601,
"aa_ref": "Y",
"aa_start": 585,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2277,
"cdna_start": 2110,
"cds_end": null,
"cds_length": 1806,
"cds_start": 1755,
"consequences": [
"stop_gained"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_001349190.2",
"gene_hgnc_id": 9903,
"gene_symbol": "RBM6",
"hgvs_c": "c.1755C>G",
"hgvs_p": "p.Tyr585*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001336119.1",
"strand": true,
"transcript": "NM_001349190.2",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 601,
"aa_ref": "Y",
"aa_start": 585,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3556,
"cdna_start": 3389,
"cds_end": null,
"cds_length": 1806,
"cds_start": 1755,
"consequences": [
"stop_gained"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "NM_001349191.2",
"gene_hgnc_id": 9903,
"gene_symbol": "RBM6",
"hgvs_c": "c.1755C>G",
"hgvs_p": "p.Tyr585*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001336120.1",
"strand": true,
"transcript": "NM_001349191.2",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 601,
"aa_ref": "Y",
"aa_start": 585,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4187,
"cdna_start": 4020,
"cds_end": null,
"cds_length": 1806,
"cds_start": 1755,
"consequences": [
"stop_gained"
],
"exon_count": 23,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "NM_001349192.2",
"gene_hgnc_id": 9903,
"gene_symbol": "RBM6",
"hgvs_c": "c.1755C>G",
"hgvs_p": "p.Tyr585*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001336121.1",
"strand": true,
"transcript": "NM_001349192.2",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 601,
"aa_ref": "Y",
"aa_start": 585,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3797,
"cdna_start": 3630,
"cds_end": null,
"cds_length": 1806,
"cds_start": 1755,
"consequences": [
"stop_gained"
],
"exon_count": 22,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "NM_001349193.2",
"gene_hgnc_id": 9903,
"gene_symbol": "RBM6",
"hgvs_c": "c.1755C>G",
"hgvs_p": "p.Tyr585*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001336122.1",
"strand": true,
"transcript": "NM_001349193.2",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 601,
"aa_ref": "Y",
"aa_start": 585,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2324,
"cdna_start": 2158,
"cds_end": null,
"cds_length": 1806,
"cds_start": 1755,
"consequences": [
"stop_gained"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000422955.5",
"gene_hgnc_id": 9903,
"gene_symbol": "RBM6",
"hgvs_c": "c.1755C>G",
"hgvs_p": "p.Tyr585*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000392939.1",
"strand": true,
"transcript": "ENST00000422955.5",
"transcript_support_level": 2
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1123,
"aa_ref": "Y",
"aa_start": 1107,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3789,
"cdna_start": 3622,
"cds_end": null,
"cds_length": 3372,
"cds_start": 3321,
"consequences": [
"stop_gained"
],
"exon_count": 21,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "XM_047447131.1",
"gene_hgnc_id": 9903,
"gene_symbol": "RBM6",
"hgvs_c": "c.3321C>G",
"hgvs_p": "p.Tyr1107*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047303087.1",
"strand": true,
"transcript": "XM_047447131.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 991,
"aa_ref": "Y",
"aa_start": 975,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3651,
"cdna_start": 3484,
"cds_end": null,
"cds_length": 2976,
"cds_start": 2925,
"consequences": [
"stop_gained"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "XM_006712916.2",
"gene_hgnc_id": 9903,
"gene_symbol": "RBM6",
"hgvs_c": "c.2925C>G",
"hgvs_p": "p.Tyr975*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006712979.1",
"strand": true,
"transcript": "XM_006712916.2",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 642,
"aa_ref": "Y",
"aa_start": 626,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2259,
"cdna_start": 2092,
"cds_end": null,
"cds_length": 1929,
"cds_start": 1878,
"consequences": [
"stop_gained"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "XM_047447133.1",
"gene_hgnc_id": 9903,
"gene_symbol": "RBM6",
"hgvs_c": "c.1878C>G",
"hgvs_p": "p.Tyr626*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047303089.1",
"strand": true,
"transcript": "XM_047447133.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 638,
"aa_ref": "Y",
"aa_start": 622,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8721,
"cdna_start": 8554,
"cds_end": null,
"cds_length": 1917,
"cds_start": 1866,
"consequences": [
"stop_gained"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "XM_017005497.2",
"gene_hgnc_id": 9903,
"gene_symbol": "RBM6",
"hgvs_c": "c.1866C>G",
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